RGD:28897684 Rat Genome Database

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Variant: RGD:28897684 -  Homo sapiens

RGD ID: 28897684
RS ID: rs2229179
ClinVar ID: CV877991
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CA4  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 58,236,802
GRCh38 17 60,159,441
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000017.10:g.58236802G>A
NR_137422.2:n.1018G>A
NM_000717.3:c.*17G>A
NM_000717.5:c.*17G>A
More...
01/13/2018 3 prime utr variant benign Tapetoretinal degeneration
Disease Annotations     Click to see Annotation Detail View

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype

Variant Details
Variant Transcripts
Gene Symbol:CA4
Accession:XM_047436655
Location:3UTRS;EXON

Gene Symbol:CA4
Accession:XM_011525183
Location:3UTRS;EXON

Gene Symbol:CA4
Accession:XM_047436653
Location:3UTRS;EXON

Gene Symbol:CA4
Accession:NM_000717
Location:3UTRS;EXON

Gene Symbol:CA4
Accession:XM_047436650
Location:3UTRS;EXON

Gene Symbol:CA4
Accession:XM_047436651
Location:3UTRS;EXON

Gene Symbol:CA4
Accession:XM_047436654
Location:3UTRS;EXON

Gene Symbol:CA4
Accession:XM_005257639
Location:3UTRS;EXON

Gene Symbol:CA4
Accession:XM_047436652
Location:3UTRS;EXON

Gene Symbol:CA4
Accession:XM_047436656
Location:3UTRS;EXON

Gene Symbol:CA4
Accession:NR_137422
Location:EXON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV001123296 CLINVAR
dbSNP (RS) rs2229179 CLINVAR
MedGen C0035334 CLINVAR
NCBI Gene CA4 CLINVAR
OMIM 114760 CLINVAR
  268000 CLINVAR
SNOMED CT 28835009 CLINVAR